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Year Number of Results
2000 1
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2002 1
2003 1
2004 3
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2007 1
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2009 2
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2013 6
2014 4
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41 results

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Page 1
[Deletion 15q26 syndrome].
Szakszon K, Ujfalusi A, Balogh E, Mogyorósy G, Felszeghy E, Szilvássy J, Horkay E, Berényi E, Merő G, Knegt AC. Szakszon K, et al. Among authors: knegt ac. Orv Hetil. 2014 Mar 2;155(9):362-4. doi: 10.1556/OH.2014.29826. Orv Hetil. 2014. PMID: 24566701 Hungarian.
Genetic basis of hyperlysinemia.
Houten SM, Te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Häberle J, Baumgartner MR, Coşkun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M. Houten SM, et al. Among authors: knegt ac. Orphanet J Rare Dis. 2013 Apr 9;8:57. doi: 10.1186/1750-1172-8-57. Orphanet J Rare Dis. 2013. PMID: 23570448 Free PMC article.
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.
Hagen J, te Brinke H, Wanders RJ, Knegt AC, Oussoren E, Hoogeboom AJ, Ruijter GJ, Becker D, Schwab KO, Franke I, Duran M, Waterham HR, Sass JO, Houten SM. Hagen J, et al. Among authors: knegt ac. J Inherit Metab Dis. 2015 Sep;38(5):873-9. doi: 10.1007/s10545-015-9841-9. Epub 2015 Apr 10. J Inherit Metab Dis. 2015. PMID: 25860818
Intellectual disability and hemizygous GPD2 mutation.
Barge-Schaapveld DQ, Ofman R, Knegt AC, Alders M, Höhne W, Kemp S, Hennekam RC. Barge-Schaapveld DQ, et al. Among authors: knegt ac. Am J Med Genet A. 2013 May;161A(5):1044-50. doi: 10.1002/ajmg.a.35873. Epub 2013 Mar 29. Am J Med Genet A. 2013. PMID: 23554088
Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism.
Huijsdens-van Amsterdam K, Barge-Schaapveld DQ, Mathijssen IB, Alders M, Pajkrt E, Knegt AC. Huijsdens-van Amsterdam K, et al. Among authors: knegt ac. Mol Cytogenet. 2012 Jan 27;5(1):8. doi: 10.1186/1755-8166-5-8. Mol Cytogenet. 2012. PMID: 22284936 Free PMC article.
Genomic and functional overlap between somatic and germline chromosomal rearrangements.
van Heesch S, Simonis M, van Roosmalen MJ, Pillalamarri V, Brand H, Kuijk EW, de Luca KL, Lansu N, Braat AK, Menelaou A, Hao W, Korving J, Snijder S, van der Veken LT, Hochstenbach R, Knegt AC, Duran K, Renkens I, Alekozai N, Jager M, Vergult S, Menten B, de Bruijn E, Boymans S, Ippel E, van Binsbergen E, Talkowski ME, Lichtenbelt K, Cuppen E, Kloosterman WP. van Heesch S, et al. Among authors: knegt ac. Cell Rep. 2014 Dec 24;9(6):2001-10. doi: 10.1016/j.celrep.2014.11.022. Epub 2014 Dec 11. Cell Rep. 2014. PMID: 25497101 Free article.
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.
van Nisselrooij AEL, Lugthart MA, Clur SA, Linskens IH, Pajkrt E, Rammeloo LA, Rozendaal L, Blom NA, van Lith JMM, Knegt AC, Hoffer MJV, Aten E, Santen GWE, Haak MC. van Nisselrooij AEL, et al. Among authors: knegt ac. Genet Med. 2020 Jul;22(7):1206-1214. doi: 10.1038/s41436-020-0791-8. Epub 2020 Apr 28. Genet Med. 2020. PMID: 32341573 Free PMC article.
41 results